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POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome

Journal of medical genetics, 2005-12, Vol.42 (12), p.907-912

2005

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MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata

Neurology, 2006-03, Vol.66 (6), p.798

2006

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Deregulated expression of EZH2 in congenital brainstem disconnection

Neuropathology and applied neurobiology, 2017-06, Vol.43 (4), p.358-365

2017

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The spectrum of cranial ultrasound and magnetic resonance imaging abnormalities in congenital cytomegalovirus infection

Neuropediatrics, 2004-04, Vol.35 (2), p.113

2004

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Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families

Neurology, 2007-06, Vol.68 (24), p.2125

2007

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Sequential MR Imaging Changes in Nonketotic Hyperglycinemia

American Journal of Neuroradiology, 2006-01, Vol.27 (1), p.208-211

2006

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A new leukoencephalopathy with vanishing white matter

Neurology, 1997-04, Vol.48 (4), p.845

1997

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Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures

Brain (London, England : 1878), 1999-04, Vol.122 (4), p.649-655

1999

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Alexander Disease: Diagnosis with MR Imaging

American journal of neuroradiology : AJNR, 2001-03, Vol.22 (3), p.541-552

2001

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Phenotypic variation in leukoencephalopathy with vanishing white matter

Neurology, 1998-08, Vol.51 (2), p.540

1998

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Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I

Annals of neurology, 1999-06, Vol.45 (6), p.787-790

1999

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Progression of abnormalities in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy despite treatment with “Lorenzo’s oil”

Journal of Neurology, Neurosurgery and Psychiatry, 1999-09, Vol.67 (3), p.290-299

1999

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Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children

Annals of neurology, 1995-03, Vol.37 (3), p.324-334

1995

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Aicardi-Goutières syndrome: An update and results of interferon-α studies

Annals of neurology, 1998-12, Vol.44 (6), p.900-907

1998

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X‐linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060)

Journal of inherited metabolic disease, 1999-06, Vol.22 (4), p.555-567

1999

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Pontocerebellar hypoplasias : an overview of a group of inherited neurodegenerative disorders with fetal onset

Brain & development (Tokyo. 1979), 1993-11, Vol.15 (6), p.411-422

BARTH, P. G

1993

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Neonatal lactic acidosis, complex I/IV deficiency, and fetal cerebral disruption

Neuropediatrics, 2005-06, Vol.36 (3), p.193

2005

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The X-Linked Gene G4.5 Is Responsible for Different Infantile Dilated Cardiomyopathies

American journal of human genetics, 1997-10, Vol.61 (4), p.862-867

1997

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PTEN hamartoma tumour syndrome: variability of an entity

Journal of medical genetics, 2003-10, Vol.40 (10), p.e111-111

2003

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Linoleic acid supplemention of Barth syndrome fibroblasts restores cardiolipin levels: implications for treatment

Journal of lipid research, 2003-03, Vol.44 (3), p.560-566

2003

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Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities

Annals of neurology, 1997-07, Vol.42 (1), p.50-59

1997

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Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival

Neurology, 2004-02, Vol.62 (3), p.439

2004

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Normal gyration and sulcation in preterm and term neonates: appearance on MR images

Radiology, 1996-08, Vol.200 (2), p.389

1996

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Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course

Acta neuropathologica, 1996-08, Vol.92 (2), p.206-212

1996

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Aicardi-Goutières syndrome : a genetic microangiopathy?

Acta neuropathologica, 1999-08, Vol.98 (2), p.212-216

1999

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POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome

MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata

Deregulated expression of EZH2 in congenital brainstem disconnection

The spectrum of cranial ultrasound and magnetic resonance imaging abnormalities in congenital cytomegalovirus infection

Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families

Sequential MR Imaging Changes in Nonketotic Hyperglycinemia

A new leukoencephalopathy with vanishing white matter

Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures

Alexander Disease: Diagnosis with MR Imaging

Phenotypic variation in leukoencephalopathy with vanishing white matter

Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I

Progression of abnormalities in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy despite treatment with “Lorenzo’s oil”

Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children

Aicardi-Goutières syndrome: An update and results of interferon-α studies

X‐linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060)

Pontocerebellar hypoplasias : an overview of a group of inherited neurodegenerative disorders with fetal onset

Neonatal lactic acidosis, complex I/IV deficiency, and fetal cerebral disruption

The X-Linked Gene G4.5 Is Responsible for Different Infantile Dilated Cardiomyopathies

PTEN hamartoma tumour syndrome: variability of an entity

Linoleic acid supplemention of Barth syndrome fibroblasts restores cardiolipin levels: implications for treatment

Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities

Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival

Normal gyration and sulcation in preterm and term neonates: appearance on MR images

Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course

Aicardi-Goutières syndrome : a genetic microangiopathy?

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